Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PCBP3_chr21_45638725_45947450	45815796	GTGATGAG others(280): Show GTGATGAGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTG ATGAGTGAGTGGTGAGTGGTGAGTCAGTGGTGAGTGGTGAGTGAGTGATG AGTGATGGGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTGAGTGGTGAGT GATGAGTGAGTGGTGAGTAGTGAGTGATGAGTGGTGAGTGGTGAGTGAGT GGTGAGTGGTGAGTGAGTGGTGAGTAGTGAGTGGTGAGTGGTGAGTGAGT GGTGAGTGGTGAGTGAGTGATGAGTGAGTGGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02965.hp2 HG03453.hp2 others(2): Show HG01891.hp2 HG02965.hp2 HG03453.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0209 a0001c0001t0002g0217 a0001c0001t0002g0218 others(2): Show a0001c0001t0002g0209 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0022g0216	5	292	0.0171	-287	c.-12 others(21): Show c.-125-34161_-125-33875del	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCGF3_chr4_700832_775089	744812	GCCCGGGG others(280): Show GCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0111 a0001c0001t0011g0111	1	366	0.0027	-287	c.462 others(15): Show c.462+132_462+418del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PKP3_chr11_389209_409908	401716	CACCCCCG others(280): Show CACCCCCGACCCCGCTCACCCCCGACCCCGCTCACCCCCGCCCCGCTCAC CCCCGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGACCCCCG GCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACC CCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCC GGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCA CCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03209.hp1 HG03486.hp1 others(2): Show HG02717.hp2 HG03209.hp1 HG03486.hp1 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0004t0001g0180 others(2): Show a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0004t0001g0180 a0001c0004t0001g0197 a0001c0004t0001g0201	5	216	0.0232	-287	c.173 others(19): Show c.1737+1017_1738-1070del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHG4B_chr5_87168_194966	175992	CTCCTGCA others(280): Show CTCCTGCACGGCTGCACCCCGCCTGAGCCCTGACCCCCTCCAGGTGAAGC CACCACCTCCCCACCGGCCCCTGAAACACTCCGGAGCCAGCTCTGTCAGA CACAGGGGGCCCCATGGCGTCGCCACAGGCTCCCCCTCTGGCCCCCAGCC TCCTGGCTACTCCACACCCCCGTGGGCTTCACCCCTGTGCAGCCCCCAAC AGCAGTTACTTGGCCAGAGGCCTCACCTCCGAGATGCCACCATCCTGAAG AGCCTTCCTGGCCTTTTTCCTTCCTTTGTAACCCACGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00597.hp2 others(41): Show HG00099.hp2 HG00140.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01261.hp1 HG01515.hp2 HG01928.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02486.hp1 HG02602.hp2 HG03017.hp1 HG03486.hp1 HG03491.hp1 HG03579.hp1 HG03669.hp1 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18747.hp2 NA18954.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18984.hp1 NA19056.hp1 NA19068.hp1 NA19088.hp2	a0002 a0004 a0008 others(6): Show a0002 a0004 a0008 a0012 a0016 a0018 a0020 a0026 a0030	a0002c0003 a0002c0005 a0002c0039 others(13): Show a0002c0003 a0002c0005 a0002c0039 a0002c0057 a0004c0006 a0004c0041 a0004c0043 a0004c0054 a0008c0024 a0008c0025 a0012c0013 a0016c0018 a0018c0022 a0020c0081 a0026c0050 a0030c0047	a0002c0003t0002 a0002c0003t0011 a0002c0003t0066 others(33): Show a0002c0003t0002 a0002c0003t0011 a0002c0003t0066 a0002c0003t0071 a0002c0003t0124 a0002c0003t0128 a0002c0003t0130 a0002c0003t0132 a0002c0003t0135 a0002c0003t0136 a0002c0005t0003 a0002c0005t0070 a0002c0005t0072 a0002c0005t0075 a0002c0005t0127 a0002c0005t0129 a0002c0039t0009 a0002c0057t0003 a0004c0006t0002 a0004c0006t0003 a0004c0006t0065 a0004c0006t0123 a0004c0006t0125 a0004c0041t0003 a0004c0043t0126 a0004c0054t0034 a0008c0024t0021 a0008c0025t0045 a0012c0013t0009 a0012c0013t0133 a0016c0018t0003 a0016c0018t0034 a0018c0022t0011 a0020c0081t0064 a0026c0050t0009 a0030c0047t0131	a0002c0003t0002g0098 a0002c0003t0002g0101 a0002c0003t0002g0132 others(41): Show a0002c0003t0002g0098 a0002c0003t0002g0101 a0002c0003t0002g0132 a0002c0003t0011g0210 a0002c0003t0066g0209 a0002c0003t0071g0095 a0002c0003t0124g0017 a0002c0003t0128g0029 a0002c0003t0130g0130 a0002c0003t0132g0028 a0002c0003t0135g0128 a0002c0003t0136g0071 a0002c0005t0003g0031 a0002c0005t0003g0167 a0002c0005t0070g0100 a0002c0005t0072g0153 a0002c0005t0075g0076 a0002c0005t0127g0124 a0002c0005t0129g0043 a0002c0039t0009g0030 a0002c0057t0003g0026 a0004c0006t0002g0051 a0004c0006t0002g0065 a0004c0006t0002g0119 a0004c0006t0003g0047 a0004c0006t0065g0208 a0004c0006t0123g0003 a0004c0006t0125g0048 a0004c0041t0003g0077 a0004c0043t0126g0099 a0004c0054t0034g0139 a0008c0024t0021g0175 a0008c0024t0021g0176 a0008c0025t0045g0172 a0012c0013t0009g0016 a0012c0013t0009g0019 a0012c0013t0133g0118 a0016c0018t0003g0005 a0016c0018t0034g0004 a0018c0022t0011g0195 a0018c0022t0011g0196 a0020c0081t0064g0200 a0026c0050t0009g0141 a0030c0047t0131g0067	44	210	0.2095	-287	c.440 others(19): Show c.4402+1901_4402+2187del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP6R2_chr22_50338327_50450090	50344870	CCCCCCCA others(280): Show CCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCC CTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTTCCCCCC AGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTC AGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCC CCCTCCAGTCAGTTCCCCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCC AGTCAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAATT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0322 a0001c0002t0004g0322	1	340	0.0029	-287	c.-14 others(19): Show c.-148+1342_-148+1628del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RAP1GAP_chr1_21591221_21674357	21653701	AGAGAGGT others(280): Show AGAGAGGTGGGAGGCGGTTGGGGCAGAGGACTGAAGAGCTAGGCCTGGGC TATGAGGATGTGCACAGTGCTTGGGCTGGGGCCTGGACTCCAGCCACATC TGGGCTGCTGCATCCCCTTCGACATGGACCTATACCTCGCCAGTCTTTTC AGTGGGAATGATTCCTGAGTGGTTTCTGCATGCCCAGTTGGCAGAGTAGC CAAGGGGCCGCCAACGTGGCAAGTTTCCCAGCCAGGCCTGGCCCCCGGGA GGCCCCACTGGTACTGGGACAGTGGGCCCTTGAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0146 a0001c0024t0001g0146	1	372	0.0027	-287	c.-14 others(19): Show c.-148-4192_-148-3906del	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RRP12_chr10_97351701_97406340	97398065	TGAGATGG others(280): Show TGAGATGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0344 a0003c0002t0001g0344	1	400	0.0025	-287	c.369 others(17): Show c.369+1953_370-1765del	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
SCARB1_chr12_124771856_124868864	124839644	TCCCAACG others(280): Show TCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGG CACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGG GCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATT TCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCAC CCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCC AACGGCACACATGGGCCCCGATTTCTCCGCACCCTCAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	356	0.0028	-287	c.127 others(19): Show c.127-22224_127-21938del	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SDHA_chr5_213320_262082	261619	GCATTACC others(280): Show GCATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTC CGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCAT TACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCC CCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGACAGAGCATTACC GTGTGAGCTCCGCCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCC CGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	266	0.0038	-287	c.52 others(11): Show c.5200_*5486del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4538		chr5	TogoVar
SGTA_chr19_2749715_2788273	2773357	CGGCAGGG others(280): Show CGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGA CTCCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGG CAGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGG GTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGG CCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACACGGCCACACGGC AGGGACTCCGAGGGCAGAGATGGGTGACGCGGCCACAG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0331 a0001c0003t0005g0332 a0001c0003t0005g0333 a0001c0003t0005g0331 a0001c0003t0005g0332 a0001c0003t0005g0333	3	396	0.0076	-287	c.-23 others(17): Show c.-23-4553_-23-4267del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773443	AGGGACAC others(280): Show AGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACACC GAGGGCAGAGGTGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGA GGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGA CACGGCCACACGGCAGGGACTCCGAGGGCAGAGATGGGTGACGCGGCCAC AGGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGG ACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0181 a0001c0003t0018g0181	1	396	0.0025	-287	c.-23 others(17): Show c.-23-4639_-23-4353del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SIGIRR_chr11_400716_419999	401684	CACCCCCG others(280): Show CACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGACCCCGCTCA CCCCCGACCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCC CGACCCCCGGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGC TCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCC CGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGA CCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 NA18522.hp2 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0228 a0001c0004t0001g0001 a0001c0004t0001g0228	2	242	0.0083	-287	c.39 others(11): Show c.3925_*4211del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4031		chr11	TogoVar
SIGIRR_chr11_400716_419999	401716	CACCCCCG others(280): Show CACCCCCGACCCCGCTCACCCCCGACCCCGCTCACCCCCGCCCCGCTCAC CCCCGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGACCCCCG GCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACC CCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCC GGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCA CCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG03225.hp1 HG03471.hp2 others(5): Show HG02717.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0125 others(5): Show a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0002g0034 a0001c0001t0004g0238 a0001c0004t0001g0001 a0001c0004t0001g0229 a0001c0004t0001g0230	8	242	0.0331	-287	c.38 others(11): Show c.3893_*4179del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3999		chr11	TogoVar
SIPA1L2_chr1_232392965_232635133	232563995	GTGATGGA others(280): Show GTGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATC TTGGCTCGCTGCAACTTCTTACAGGCATCAGCCACTGCTCCTGGCCAAGG AAGGTTTCATCATGTTGGCCAGACTGAACGACGAAGGTTGTTTTTTTTTT TTTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCAT CATGTTGGCCAGACTGAACGACAAAGGTTTTTTTTTTTTTCGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG02818.hp2 others(2): Show HG02109.hp1 HG02647.hp1 HG02818.hp2 HG02970.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0006 a0001c0005 a0002c0006	a0001c0005t0001 a0001c0005t0003 a0002c0006t0001 others(1): Show a0001c0005t0001 a0001c0005t0003 a0002c0006t0001 a0002c0006t0019	a0001c0005t0001g0167 a0001c0005t0003g0290 a0002c0006t0001g0109 others(2): Show a0001c0005t0001g0167 a0001c0005t0003g0290 a0002c0006t0001g0109 a0002c0006t0001g0221 a0002c0006t0019g0108	5	292	0.0171	-287	c.-27 others(20): Show c.-270+9892_-270+10178del	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1071166	CCCCCAGC others(280): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCA CACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGTA TCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTA TGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCC CAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0034 a0002c0011t0002g0034	1	118	0.0085	-287	c.224 others(19): Show c.2241+2180_2241+2466del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SYNPO_chr5_150635660_150664207	150647136	GGGAGGCT others(280): Show GGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAG TGAGCCGAGATTGCGCCGCTGCGCTCTAGCCTGGGCGACAAGAGCAAAAA CTCCTTCTCAAAAAAAAAAAAAAAAAGTCAGGCAAGGTCATTGCCCCTTG GAGCTATGCTGTAGGTGAGGAGACAGATAATAGACAGGGAAACATAAAGA TCATTTCAACTTGGTGAATGCTATGGAGAAAACAAAACAGATGGGATAGG AGAAGGAAAGGTGCCTCCAGAGAGGGGACATTCCAGCT	G G	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0070 a0001c0001t0059g0070	1	390	0.0026	-287	c.-33 others(17): Show c.-332-806_-332-520del	SYNPO	ENSG00000171992.13	transcript	ENST00000307662.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
TMEM44_chr3_194582678_194638419	194630422	AATACGCT others(280): Show AATACGCTGTCGTACTGCCTCCCGAAGGGGCTGGCTGTTTCCATCGGCGT CACTGATAGGGCCCCTGAAATAGTATGCTGTCGTACCTGCCTCCAGAAGG GGCTGGCTGTTTCCATCGGCGTCACTGATAGGGCCCCTGAAATGATACGC TGTCGTACCTGCCTCCCGAAGGGGCTGGCTGTTTCCATCGGCGTCACTGA TAGGGCCCCTGAAATAGTATGCTGTCGTACCTGCCTCCAGAAGGGGCTGG CTGTTTCCATCGGCGTCACTGATAGGGCCCCTGAAATG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02818.hp1 HG03225.hp2 others(1): Show HG02615.hp1 HG02818.hp1 HG03225.hp2 HG03540.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0003c0013 a0001c0001 a0003c0004 a0003c0013	a0001c0001t0001 a0003c0004t0001 a0003c0013t0001 others(1): Show a0001c0001t0001 a0003c0004t0001 a0003c0013t0001 a0003c0013t0006	a0001c0001t0001g0183 a0003c0004t0001g0185 a0003c0013t0001g0182 others(1): Show a0001c0001t0001g0183 a0003c0004t0001g0185 a0003c0013t0001g0182 a0003c0013t0006g0184	4	404	0.0099	-287	c.138 others(17): Show c.138-2200_138-1914del	TMEM44	ENSG00000145014.18	transcript	ENST00000347147.9	protein_coding	1/9			chr3	TogoVar
VSTM2B_chr19_29520994_29569551	29566399	GGGAGGGG others(280): Show GGGAGGGGCTGATGTGATAGGCACAGTGGAGAAGCTGGTGTGATGGGCAC GGGAGGGGCTGGTGTGATGGGCACAGGGGAGTGGGCAAGTGTGATGGGCA CAGGGGAGGGGCTGGTGTGAGGAGCATAAAGGAGGGGCAGGTGTGATAGG CATAGGGGAGGGGCTGGTGTAATGGGCACAGGGGAGGAACTGCTGTGATA GGCACAGGGGAATGGGCAGGTGAGATAGGTAGAGGGGAGGGGCAGGTGTG ATGCCTACAGCAGAGGGGACAGGTGTGATGGGCACTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	406	0.0025	-287	c.24 others(11): Show c.2466_*2752del	VSTM2B	ENSG00000187135.8	transcript	ENST00000335523.8	protein_coding		1849		chr19	TogoVar
AFDN_chr6_167821911_167977023	167940478	TGTGTGGA others(279): Show TGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAGCCATCCAC AGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAA CCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAG GGTGGAAGCCATCCACAGGAGACATGTGGACAGACACAGAGGGATGTAGG TGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGG GATGTAGGGGTGAGGGTGGAAGCCATCCACAGGAGAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02809.hp2 others(1): Show HG02451.hp2 HG02615.hp2 HG02809.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 others(1): Show a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0014g0094	4	326	0.0123	-286	c.310 others(19): Show c.3100-2610_3100-2325del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
AFDN_chr6_167821911_167977023	167940650	CATGTGGA others(279): Show CATGTGGACAGACACAGAGGGATGTAGGTGTGAGGGTGGAAACCATCCAC AGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAG CCATCCACAGGAGACGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGG TGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGG GGTGAGGGTGGAAGCCATCCACAGGAGACATATGGACAGACACAGAGAGA TGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp2 others(46): Show HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00735.hp1 HG00738.hp1 HG01074.hp1 HG01123.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01934.hp2 HG02080.hp1 HG02083.hp2 HG02145.hp2 HG02257.hp2 HG02273.hp1 HG02523.hp1 HG02602.hp1 HG02735.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp2 HG03710.hp2 NA18612.hp2 NA18941.hp1 NA18943.hp1 NA18954.hp1 NA18964.hp1 NA18968.hp1 NA18975.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19079.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0001c0010 others(4): Show a0001c0003 a0001c0005 a0001c0010 a0001c0024 a0001c0031 a0002c0014 a0002c0022	a0001c0003t0001 a0001c0003t0021 a0001c0005t0001 others(5): Show a0001c0003t0001 a0001c0003t0021 a0001c0005t0001 a0001c0010t0001 a0001c0024t0001 a0001c0031t0001 a0002c0014t0001 a0002c0022t0001	a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0011 others(46): Show a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0017 a0001c0003t0001g0019 a0001c0003t0001g0021 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0035 a0001c0003t0001g0039 a0001c0003t0001g0055 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0068 a0001c0003t0001g0073 a0001c0003t0001g0076 a0001c0003t0001g0078 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0205 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0021g0062 a0001c0005t0001g0002 a0001c0005t0001g0026 a0001c0005t0001g0041 a0001c0005t0001g0049 a0001c0005t0001g0052 a0001c0005t0001g0064 a0001c0005t0001g0065 a0001c0005t0001g0072 a0001c0005t0001g0075 a0001c0005t0001g0085 a0001c0005t0001g0276 a0001c0005t0001g0310 a0001c0010t0001g0099 a0001c0010t0001g0101 a0001c0010t0001g0102 a0001c0024t0001g0124 a0001c0031t0001g0046 a0002c0014t0001g0020 a0002c0022t0001g0036	49	326	0.1503	-286	c.310 others(19): Show c.3100-2478_3100-2193del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33			chr6	TogoVar
AMFR_chr16_56356452_56430545	56397856	GTATCATT others(279): Show GTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCA TTTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATA ATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATAT AAATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGT ATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCATT TATAATATATAAATGTATCATTTATAATATATAACTC	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0196 a0001c0001t0004g0196	1	356	0.0028	-286	c.108 others(19): Show c.1085+3591_1085+3876del	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
BAIAP2_chr17_81030151_81122434	81053856	GCCCCGTG others(279): Show GCCCCGTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGC CCCGTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCC CTTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCTGGCCCCA AGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCGTGG GGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCTGGCCCCAAGGGT GGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01243.hp2 HG02258.hp1 others(4): Show HG00544.hp1 HG01243.hp2 HG02258.hp1 HG02615.hp2 HG02647.hp2 HG02886.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0001c0013 a0002c0002	a0001c0001t0003 a0001c0004t0011 a0001c0006t0010 others(2): Show a0001c0001t0003 a0001c0004t0011 a0001c0006t0010 a0001c0013t0003 a0002c0002t0025	a0001c0001t0003g0375 a0001c0004t0011g0317 a0001c0004t0011g0319 others(4): Show a0001c0001t0003g0375 a0001c0004t0011g0317 a0001c0004t0011g0319 a0001c0006t0010g0318 a0001c0006t0010g0320 a0001c0013t0003g0045 a0002c0002t0025g0185	7	376	0.0186	-286	c.130 others(15): Show c.130+337_130+622del	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
C2CD4C_chr19_400445_414147	404514	GGGACGGG others(279): Show GGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTG AGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGAGAC GGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGG GTCTGAGGGGGGGACGGGTCCTGCCCCGAGGGGTGTGGAGGGGGGAACGG GGTCCTGCCCTGAGGGGTGTGGGGGGAACGGGGTCCTGCCCTGAGGGGTG TGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02165.hp2 NA18983.hp1 HG00673.hp2 HG02165.hp2 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0011 a0001c0002t0003 a0001c0002t0011	a0001c0002t0003g0002 a0001c0002t0011g0007 a0001c0002t0003g0002 a0001c0002t0011g0007	3	322	0.0093	-286	c.22 others(11): Show c.2296_*2581del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		930		chr19	TogoVar
C7orf50_chr7_992006_1143247	1127949	CCTGTCAC others(279): Show CCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCG TCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCAC CCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCTCACCGTCACCCGG GCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTG GAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGT GCAGTGGCGCCATCTCGGCTCATCTCACCGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03579.hp1 HG02818.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0212 a0001c0001t0005g0227 a0001c0001t0005g0212 a0001c0001t0005g0227	2	326	0.0061	-286	c.-1- others(13): Show c.-1-849_-1-564del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128687	CGTCACCC others(279): Show CGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCCTG TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCTGTC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCAC CCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCATCACCCGG GCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGC TGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0312 a0001c0001t0012g0312	1	326	0.0031	-286	c.-1- others(15): Show c.-1-1587_-1-1302del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CCDC187_chr9_136244973_136309094	136251979	CGCGGAGC others(279): Show CGCGGAGCCGGCCGCCCACCTGGTCCACCCTGGGAAGAGCCGGCCGCCCA CCCAGTCCACCCTGGGAAGGTCCAGGCAACCATCCCGCACAGCCGGCCGC CCACCCCGTCCACCAGGGGAAGGTCCAGGCGACCGTCCCGCAGAGCCGGC GCCCACCCTGTCCACCAGGGGAAGAGCCGGCCGCCCACCCGGTCCACCCC GGGAAGAGCCGGCCGCCCACCCGGCCCACCCTGGGAAGAGCCGGCCGCCC ACCCAGTCCACCCCGGGAAGGTCCAGGCGACCGTCCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp1 HG02809.hp2 HG02895.hp1 others(2): Show HG01106.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG03540.hp2	a0038 a0046 a0158 a0038 a0046 a0158	a0038c0055 a0046c0028 a0158c0130 a0038c0055 a0046c0028 a0158c0130	a0038c0055t0027 a0046c0028t0040 a0158c0130t0027 a0038c0055t0027 a0046c0028t0040 a0158c0130t0027	a0038c0055t0027g0311 a0038c0055t0027g0314 a0046c0028t0040g0036 others(2): Show a0038c0055t0027g0311 a0038c0055t0027g0314 a0046c0028t0040g0036 a0046c0028t0040g0037 a0158c0130t0027g0190	5	400	0.0125	-286	c.13 others(11): Show c.1329_*1614del	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1329		chr9	TogoVar
CDK12_chr17_39456486_39539544	39498869	TTTTCTCT others(279): Show TTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0159 a0001c0001t0014g0159	1	260	0.0039	-286	c.242 others(19): Show c.2420-2375_2420-2090del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK12_chr17_39456486_39539544	39498922	TCTTTCTT others(279): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03098.hp2 HG02145.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0015 a0001c0007t0009 a0001c0001t0015 a0001c0007t0009	a0001c0001t0015g0101 a0001c0007t0009g0098 a0001c0001t0015g0101 a0001c0007t0009g0098	2	260	0.0077	-286	c.242 others(19): Show c.2420-2327_2420-2042del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13			chr17	TogoVar
CFAP46_chr10_132803392_132947570	132935512	CCCAAACA others(279): Show CCCAAACACACTGTGATCTCCTCACTCCCCTCGGCACCCAAACACACTGC GATCTTCTCATTCCCCTCAGCACCCAAACCCACTGTGATCTCCTCGCTCC CCTCGGCACCCAAACACACTGTGATCTCCTCACTCCCCTCAGCACCCAAA CACACTGAGATCTCCTCACTCCCCTCACATCCAAACACACTGTGATCTCC TCACTCCCCTCGGCACCCAAACACACTGTGATCTCCTCACAGCCCTCAGC ACCCAAACACACTGTGATCTCCTCACTCCCCTCACAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01123.hp1 HG02895.hp1 others(2): Show HG00741.hp1 HG01123.hp1 HG02895.hp1 HG03209.hp1 HG03225.hp1	a0018 a0023 a0032 others(1): Show a0018 a0023 a0032 a0046	a0018c0024 a0023c0062 a0032c0063 others(1): Show a0018c0024 a0023c0062 a0032c0063 a0046c0064	a0018c0024t0001 a0023c0062t0001 a0032c0063t0001 others(1): Show a0018c0024t0001 a0023c0062t0001 a0032c0063t0001 a0046c0064t0001	a0018c0024t0001g0211 a0018c0024t0001g0212 a0023c0062t0001g0210 others(2): Show a0018c0024t0001g0211 a0018c0024t0001g0212 a0023c0062t0001g0210 a0032c0063t0001g0213 a0046c0064t0001g0214	5	246	0.0203	-286	c.756 others(15): Show c.756-936_756-651del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	7/57			chr10	TogoVar
CHCHD6_chr3_126699240_126965420	126862786	ACCATCAC others(279): Show ACCATCACCACCTTCCCCTCTACCACCATCACCAACTCCCCCTCCTCCAC CATCACCACCTCCTCCTCCACCATCACCACCTCCTCCTCCACCATCACTA CCTCCTCCTCCTCCACCATCACCACCTCCTCCTCCTCCACCATCACCACC TTCCCCTCTACCACCATCACCAACTCCCCCTCCTCCACCATCACCACCTC CTCCTCCACCATCACCACCTCCTCCTCCACCATCACTACCTCCTCCTCCT CCACCATCACCACCTCCTCCTCCTCCTCCACCATCAT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	216	0.0046	-286	c.495 others(19): Show c.495+10058_495+10343del	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
DAB2IP_chr9_121646634_121790530	121781559	CTCCGGCC others(279): Show CTCCGGCCCTTTGGTCAGCCACAAGAGTTAAAGGGCCTGGGATTAGGAGG GGTGACTAGCCTCTCCATCCTCAGTCATACCTCACTGCAGACACTGAGGG GAATAAGAAACCAGAATCTGCCCTGAGAAGTCAGACCTGTGGTCTTAGTG GGCCACAAGCTCACTAGGACAGGCTGTGAAAGGAGAGAGGCAGCTCCTCC CCTGCCAGGGCTCTTGGCGGGCATTGTCTTTCACCAGGACTGCTGACCAA AGAGTGGAAGCCACCAGGAGGGCAGTGGGGGTAGGAG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0148 a0005c0009t0002g0148	1	224	0.0045	-286	c.340 others(16): Show c.3402+10_3402+295del	DAB2IP	ENSG00000136848.19	transcript	ENST00000408936.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
DACH1_chr13_71432966_71872204	71734353	TATACCCC others(279): Show TATACCCCATATATATGTATATCCCATATACGTATACCCCATATATATGT GTATCCCATATACGTATACCCCATATATATGTATAGCCCATATACGTATA CCCCATATATATGTATATCCCATATACGTATACCCCATATATATGTATAT CCCATATACGTATACCCCATATATATGTATATCCCATATACGTATACCCC ATATATATGTATATCCCATATACGTATACCCCATATATATGTATATCCCA TATACGTATACCCCATATATATGTATATCCCATATAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19043.hp2 HG02965.hp1 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0042 a0005c0008t0001g0098 a0001c0001t0001g0042 a0005c0008t0001g0098	2	102	0.0196	-286	c.849 others(19): Show c.849-52729_849-52444del	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DIP2C_chr10_269201_694668	322118	GCGGGGCT others(279): Show GCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGC GGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCG GGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGG GGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGG GCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0069 a0001c0003t0002g0069	1	88	0.0114	-286	c.392 others(19): Show c.3924+4602_3924+4887del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323098	GCGGGGCT others(279): Show GCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCAGTGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGC GGGGGTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCG GGGCTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGG GGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGG GCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	88	0.0114	-286	c.392 others(19): Show c.3924+3622_3924+3907del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1017240	GTGTGTGA others(279): Show GTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGAC GATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTG TGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGAT GCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTAT GACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGGCG CCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCAC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0031 a0003c0005t0002g0031	1	40	0.0250	-286	c.73+ others(19): Show c.73+109281_73+109566del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1571765	CGTCTTCT others(279): Show CGTCTTCTGGGATGGAGAGGAGACGGGGTGAACTATGGGGCGTCTGATGA GATGGAGAGGAGAGAGGGTAAACTGTGGGGGCGTCTGCTGGGATGGAGAG GAGACAGGGTGAACTGTGGGGGCGTCTAATGAGATGGAGAGGAGAGAGGG TAAACTGTGGGGGCGTCTGCTGGGATGGAGAGGAGAGAGGGTGAACTGTG GGGGCGTCTGATGAGATGGAGAGGAGAGAGGGTGAACTGTGGGGGCGTCT GATGAGACGGAGAGGAGAGAGGGTGAACTGTGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0025 a0001c0010t0025	a0001c0010t0025g0012 a0001c0010t0025g0012	1	40	0.0250	-286	c.144 others(19): Show c.1442+5876_1442+6161del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNHD1_chr11_6492280_6577020	6552000	AGGGAGGC others(279): Show AGGGAGGCTTAGGCAGGAGGATTTCTTAAGGCCAGGAGTTCAAGACCAGC CTGGGCAGCATAGTGGGACCCTCATTTAAAAAAAAAAGTTTTAAAAAATG GATAATAAGGGAAAATTATGAAAAACTTTATGCTAATAAATTTAGCAACT TAGGTGAAATGGATACATGCTGTATTAGTCTGTTTTCACACTGCAATAAA GAACTACTTGAGACTGGGTAATTCATAAAGAAAAGAGGGTTAGGCCAGGC ATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0026 a0026	a0026c0021 a0026c0021	a0026c0021t0001 a0026c0021t0001	a0026c0021t0001g0264 a0026c0021t0001g0264	1	342	0.0029	-286	c.738 others(19): Show c.7387+3069_7387+3354del	DNHD1	ENSG00000179532.13	transcript	ENST00000254579.11	protein_coding	24/42		INFO_REALIGN_3_PRIME	chr11	TogoVar
GAL3ST2_chr2_241771822_241809287	241805935	CCTTCCCT others(279): Show CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCA AGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19043.hp1 NA19030.hp2 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0018 a0002c0002t0002g0019 a0002c0002t0001g0018 a0002c0002t0002g0019	2	314	0.0064	-286	c.17 others(11): Show c.1770_*2055del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1649		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805959	GACCTCCT others(279): Show GACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02148.hp1 HG02132.hp1 HG02148.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0012 a0003c0003t0001g0007 a0001c0001t0001g0012 a0003c0003t0001g0007	2	314	0.0064	-286	c.17 others(11): Show c.1794_*2079del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1673		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807611	TCCCTCCC others(279): Show TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	314	0.0032	-286	c.34 others(11): Show c.3446_*3731del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3325		chr2	TogoVar
GGT1_chr22_24598193_24633996	24605570	AATGTGTA others(279): Show AATGTGTATTATATATATAATATTATATAATGTGTATTATATATATAATA TTATATAATGTGTATTATATATATAATATTATATAATGTGTATTATATAT TTAATATTATATAATGTGTATTATATATTTAATATTATATAATGTGTATT ATATATTATATAATATTATATAATGTGTATTATATATTATATAATATTAT ATAATGTGTATTATATATTATATAATATATGATGTGTATTATATATTATA TATTATATGATGTGTATTATATATTATATAATATATG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19240.hp1 HG02922.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0022 a0002c0002t0001 a0002c0002t0022	a0002c0002t0001g0256 a0002c0002t0022g0252 a0002c0002t0001g0256 a0002c0002t0022g0252	2	426	0.0047	-286	c.-42 others(19): Show c.-429+2059_-428-2083del	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LEPR_chr1_65415668_65646559	65613473	GCCGGGCG others(279): Show GCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCAGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCATTGCAGTCC GCAGTCCGGCCTGGGCAACAGAGCGAGACTCCGTCTC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0095 a0003c0006t0001g0095	1	216	0.0046	-286	c.199 others(19): Show c.1996-2534_1996-2249del	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	14/19			chr1	TogoVar
LUC7L_chr16_183990_234449	186543	GGGGAACA others(279): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	350	0.0029	-286	c.23 others(11): Show c.2369_*2654del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2446		chr16	TogoVar
MYZAP_chr15_57586904_57690364	57688105	TATATGTG others(279): Show TATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATA TATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATA TATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATA TATTATGTGTGTACAATATACACATATATTATGTGTGTACAATATACACA TATATAATATGTGTGTACAATATACACATATATATAATATGTGTGTACAA TATACACATATATATAATATGTGTGTACAATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG01069.hp2 others(7): Show HG00558.hp1 HG00673.hp2 HG01069.hp2 HG01071.hp2 HG01192.hp1 HG01884.hp2 HG01952.hp2 HG02735.hp1 HG03471.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0002 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0003 a0002c0002t0005	a0001c0001t0001g0169 a0001c0001t0001g0193 a0001c0001t0001g0214 others(7): Show a0001c0001t0001g0169 a0001c0001t0001g0193 a0001c0001t0001g0214 a0001c0001t0001g0342 a0001c0003t0002g0035 a0001c0003t0003g0141 a0001c0003t0003g0155 a0001c0003t0003g0156 a0001c0003t0003g0157 a0002c0002t0005g0090	10	352	0.0284	-286	c.36 others(11): Show c.3608_*3893del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2742		chr15	TogoVar
NCMAP_chr1_24551087_24614328	24602304	TAAGAATA others(279): Show TAAGAATATGAATATTATCCTGTAATCCCAGCACTTTGAGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGCAGTGGTGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCGG AGCTTGCAGTGAGCGGAGATCGCGCCACAGCACTCCCGCCTGGGCGACAG AACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01243.hp1 HG01884.hp2 others(20): Show HG01099.hp2 HG01243.hp1 HG01884.hp2 HG01891.hp2 HG02559.hp1 HG02572.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG06807.hp1 NA18522.hp2 NA19240.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0013 a0002c0002t0031 a0002c0002t0004 a0002c0002t0013 a0002c0002t0031	a0002c0002t0004g0004 a0002c0002t0004g0006 a0002c0002t0004g0016 others(19): Show a0002c0002t0004g0004 a0002c0002t0004g0006 a0002c0002t0004g0016 a0002c0002t0004g0017 a0002c0002t0004g0023 a0002c0002t0004g0025 a0002c0002t0004g0029 a0002c0002t0004g0030 a0002c0002t0004g0031 a0002c0002t0004g0033 a0002c0002t0004g0057 a0002c0002t0004g0148 a0002c0002t0004g0201 a0002c0002t0004g0275 a0002c0002t0004g0389 a0002c0002t0004g0390 a0002c0002t0004g0391 a0002c0002t0004g0393 a0002c0002t0004g0395 a0002c0002t0013g0002 a0002c0002t0013g0146 a0002c0002t0031g0024	23	402	0.0572	-286	c.167 others(17): Show c.167+1298_167+1583del	NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
NEU4_chr2_241804193_241822413	241805935	CCTTCCCT others(279): Show CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCA AGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19043.hp2 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0001 a0002c0003t0002 a0001c0004t0001 a0002c0003t0002	a0001c0004t0001g0049 a0002c0003t0002g0195 a0001c0004t0001g0049 a0002c0003t0002g0195	2	319	0.0063	-286	c.-33 others(11): Show c.-3342_-3057del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3257		chr2	TogoVar
NKD2_chr5_1003802_1043943	1022955	TGTGGGCG others(279): Show TGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGT CCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCA TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTG CTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCA CCCGCTGTGGGCATCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTG GGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(35): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00558.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01109.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01515.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02145.hp2 HG02148.hp1 HG02683.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03453.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18960.hp2 NA18992.hp1 NA18999.hp2 NA19002.hp2 NA19007.hp2 NA19067.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0236 a0001c0001t0001g0244 a0001c0001t0003g0013 a0001c0001t0003g0118 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0005g0081 a0001c0001t0006g0269 a0002c0003t0001g0034 a0002c0003t0001g0211	38	319	0.1191	-286	c.142 others(17): Show c.142-9196_142-8911del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1023488	TGTGGGCG others(279): Show TGTGGGCGTCTCAGCCCGTTGTCTCTGCTCTTCCCACCCTCTGTGGGCGT CTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCA TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTG CTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCA CCCTCTGTGGGCGTCTCAGCCCATTGCCCCTGCTCTTCCCACCCTCTGTG GGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACTCTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00544.hp2 others(43): Show HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG01070.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01346.hp1 HG01361.hp2 HG01517.hp2 HG01934.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp2 HG02074.hp2 HG02148.hp2 HG02486.hp1 HG02615.hp1 HG02735.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03834.hp2 HG03942.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18968.hp1 NA18973.hp2 NA18984.hp2 NA18999.hp1 NA19057.hp1 NA19064.hp1 NA19074.hp1 NA19079.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0001c0010 others(1): Show a0001c0001 a0001c0008 a0001c0010 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0008t0023 a0001c0008t0024 a0001c0010t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0020 others(39): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0070 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0002g0212 a0001c0001t0003g0124 a0001c0001t0005g0080 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0009g0083 a0001c0001t0009g0084 a0001c0001t0009g0085 a0001c0001t0012g0120 a0001c0001t0020g0202 a0001c0001t0021g0010 a0001c0001t0022g0199 a0001c0008t0023g0021 a0001c0008t0024g0021 a0001c0010t0001g0210 a0002c0003t0001g0041 a0002c0003t0001g0208	46	319	0.1442	-286	c.142 others(17): Show c.142-8663_142-8378del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1024103	TGTGGGCG others(279): Show TGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGT CTCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCA TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTG CTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCA CCCGCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTG GGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01496.hp2 others(6): Show HG00639.hp1 HG00741.hp1 HG01496.hp2 HG02280.hp2 HG02451.hp2 HG02897.hp1 HG03654.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0185 a0001c0002t0001g0194 a0001c0002t0003g0006 others(4): Show a0001c0002t0001g0185 a0001c0002t0001g0194 a0001c0002t0003g0006 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0110 a0001c0002t0003g0262	9	319	0.0282	-286	c.142 others(17): Show c.142-8048_142-7763del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1024554	TGTGGGCG others(279): Show TGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCAT CCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCT TTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTG CTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCA CCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTG GGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	319	0.0031	-286	c.142 others(17): Show c.142-7597_142-7312del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar

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Search Results (Total: 10000 hits)